A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596657



Internal ID20969728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54888785..55573993hg38UCSC Ensembl
chr19:55400152..56085359hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38685209
hg19685208
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18248470
Samples
Known GenesBRSK1, COX6B2, DNAAF3, EPS8L1, FAM71E2, FCAR, GP6, HSPBP1, IL11, ISOC2, MIR6802, MIR6803, MIR6804, MIR6805, NAT14, NCR1, NLRP2, NLRP7, PPP1R12C, PPP6R1, PTPRH, RDH13, RNU6-35P, RNU6-64P, RPL28, SBK2, SBK3, SHISA7, SSC5D, SUV420H2, SYT5, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, UBE2S, ZNF628
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596657
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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